CD19 p.Pro176=
c.528G>A · rs568312450 · VCV1625808
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0383%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.22 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.5 | |
| Overall | ||
| CADD | 0.53 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0383%
Admixed American · 23/60,012 alleles
Filtering AF
0.0261%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0222%
Overall
0.00217%
35/1,613,242 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0383% | 2,609 |
| European (non-Finnish) | 0.00102% | 98,332 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CD19
- Protein
- p.Pro176=
- Coding
- c.528G>A
- MANE Select
- NM_001770
- dbSNP
- rs568312450
- Type
- single nucleotide variant
- Location
- chr16:28933083 (GRCh38)
- Gene constraint
- LOEUF 0.627 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 62.99 · 4 PDB
- Residue 176
- a disulfide bond; the ig-like c2-type 2 domain
Similar variants
- CD19 p.Pro176Leu Uncertain significance ★★ ⚠ same residue
- CD19 c.835+3A>G Uncertain significance ★★ same type
- CD19 p.Ala191Thr Uncertain significance ★★ ⚠ same type
- CD19 p.Arg123Trp Uncertain significance ★★ ⚠ same type
- CD19 p.Arg163His Uncertain significance ★★ ⚠ same type
- CD19 p.Arg234Cys Uncertain significance ★★ ⚠ same type
- CD19 p.Arg263His Uncertain significance ★★ ⚠ same type
- CD19 p.Arg321Lys Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cd19-p-pro176 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown